PMC Articles for MedGen (Select 477667) - PMC

Select item 74347441.

Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol

Mol Genet Genomic Med. 2020 Aug; 8(8): e1277. Published online 2020 Jun 14. doi: 10.1002/mgg3.1277

PMCID:: PMC7434744

Article PDF–500K

Select item 44026372.

Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature

Merel Klaassens, Deborah Morrogh, Elisabeth M Rosser, Fatima Jaffer, Maaike Vreeburg, Levinus A Bok, Tim Segboer, Martine van Belzen, Ros M Quinlivan, Ajith Kumar, Jane A Hurst, Richard H Scott

Eur J Hum Genet. 2015 May; 23(5): 610–615. Published online 2014 Aug 13. doi: 10.1038/ejhg.2014.162

PMCID:: PMC4402637

Article PDF–591K

Select item 32754453.

Chromosome 15q24 microdeletion syndrome

Pilar L Magoulas, Ayman W El-Hattab

Orphanet J Rare Dis. 2012; 7: 2. Published online 2012 Jan 4. doi: 10.1186/1750-1172-7-2

PMCID:: PMC3275445

Article PDF–570K

Select item 10510374.

Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.

A Schinzel, C P Braegger, L Brecevic, F Dutly, F Binkert

J Med Genet. 1997 Aug; 34(8): 692–695. doi: 10.1136/jmg.34.8.692

PMCID:: PMC1051037

Summary Page Browse PDF–675K

Select item 104834985.

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Yusuke Noda, Jun Kido, Yohei Misumi, Keishin Sugawara, Sachiko Ohori, Atsushi Fujita, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

Clin Case Rep. 2023 Sep; 11(9): e7779. Published online 2023 Sep 7. doi: 10.1002/ccr3.7779

PMCID:: PMC10483498

Article PDF–7.1M

Select item 90970506.

From Wolf-Hirschhorn syndrome to NSD2 haploinsufficiency: a shifting paradigm through the description of a new case and a review of the literature

Luisa Cortellazzo Wiel, Irene Bruno, Egidio Barbi, Fabio Sirchia

Ital J Pediatr. 2022; 48: 72. Published online 2022 May 12. doi: 10.1186/s13052-022-01267-w

PMCID:: PMC9097050

Article PDF–766K

Select item 48782477.

Direct brow lifting: Specific indications for a simplified approach to eyebrow ptosis

Michele Pascali, Ilaria Bocchini, Anna Avantaggiato, Francesco Carinci, Valerio Cervelli, Fabrizio Orlandi, Davide Quarato

Indian J Plast Surg. 2016 Jan-Apr; 49(1): 66–71. doi: 10.4103/0970-0358.182243

PMCID:: PMC4878247

Article

Select item 37766688.

16p Subtelomeric Duplication with Vascular Anomalies: an Albanian Case Report and Literature Review

A Babameto-Laku, V Mokini, N Kuneshka, S Sallabanda, Z Ylli

Balkan J Med Genet. 2012 Dec; 15(2): 73–76. Published online 2013 Apr 2. doi: 10.2478/bjmg-2013-0010

PMCID:: PMC3776668

Article PDF–521K

Select item 29075659.

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

L Alison McInnes, Alisa Nakamine, Marion Pilorge, Tracy Brandt, Patricia Jiménez González, Marietha Fallas, Elina R Manghi, Lisa Edelmann, Joseph Glessner, Hakon Hakonarson, Catalina Betancur, Joseph D Buxbaum

Mol Autism. 2010; 1: 5. Published online 2010 Mar 19. doi: 10.1186/2040-2392-1-5

PMCID:: PMC2907565

Article PDF–1.5M

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